ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 26 by Natera, Inc.

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_201548.5(CERKL):c.362C>T (p.Thr121Ile) rs143157602 0.00044
NM_201548.5(CERKL):c.97T>G (p.Leu33Val) rs554167374 0.00038
NM_201548.5(CERKL):c.602C>G (p.Thr201Ser) rs142996023 0.00026
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) rs145489428 0.00019
NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp) rs146279858 0.00019
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln) rs568128856 0.00018
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) rs529313774 0.00018
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_201548.5(CERKL):c.1316G>A (p.Arg439Gln) rs553792277 0.00012
NM_201548.5(CERKL):c.540A>G (p.Lys180=) rs149505471 0.00011
NM_201548.5(CERKL):c.191G>A (p.Ser64Asn) rs61760902 0.00010
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro) rs746220721 0.00007
NM_201548.5(CERKL):c.41A>C (p.Glu14Ala) rs372089851 0.00006
NM_201548.5(CERKL):c.250T>C (p.Tyr84His) rs1343928865 0.00004
NM_201548.5(CERKL):c.677+610A>G rs116063501 0.00004
NM_201548.5(CERKL):c.830A>G (p.Asn277Ser) rs200369970 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) rs762961333 0.00003
NM_201548.5(CERKL):c.1204G>A (p.Val402Ile) rs372755116 0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser) rs768292284 0.00002
NM_201548.5(CERKL):c.163G>C (p.Gly55Arg) rs549986396 0.00002
NM_201548.5(CERKL):c.34G>A (p.Ala12Thr) rs376374604 0.00002
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) rs144793035 0.00001
NM_201548.5(CERKL):c.1268G>A (p.Arg423Lys) rs755105366 0.00001
NM_201548.5(CERKL):c.1291C>G (p.Leu431Val) rs34150300 0.00001
NM_201548.5(CERKL):c.1445C>T (p.Pro482Leu) rs1459300740 0.00001
NM_201548.5(CERKL):c.1454A>G (p.Glu485Gly) rs369866192 0.00001
NM_201548.5(CERKL):c.1498G>A (p.Asp500Asn) rs771072583 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201548.5(CERKL):c.553G>C (p.Val185Leu) rs146698457 0.00001
NM_201548.5(CERKL):c.677+613C>T rs199691281 0.00001
NM_201548.5(CERKL):c.820+10T>C rs777113677 0.00001
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) rs772798578 0.00001
NM_201548.5(CERKL):c.1043T>C (p.Phe348Ser) rs1687844821
NM_201548.5(CERKL):c.1064C>A (p.Ala355Glu) rs144917662
NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser) rs1687791244
NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg) rs773416880
NM_201548.5(CERKL):c.129C>T (p.Ala43=) rs746107676
NM_201548.5(CERKL):c.1368C>T (p.Phe456=) rs1687372607
NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup) rs750109553
NM_201548.5(CERKL):c.184G>T (p.Val62Leu) rs1574077394
NM_201548.5(CERKL):c.238+6T>C rs749540242
NM_201548.5(CERKL):c.364C>G (p.Leu122Val) rs754571046
NM_201548.5(CERKL):c.41A>G (p.Glu14Gly) rs372089851
NM_201548.5(CERKL):c.44_55del (p.Gly15_Glu18del) rs780332524
NM_201548.5(CERKL):c.548C>T (p.Thr183Ile) rs762281053
NM_201548.5(CERKL):c.57A>C (p.Glu19Asp) rs1688202555
NM_201548.5(CERKL):c.677+590G>C rs1688623229
NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr) rs765183381
NM_201548.5(CERKL):c.901G>A (p.Val301Ile) rs1453612133

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